Authors:
Ashton-Prolla, P
Tong, BZ
Shabbeer, J
Astrin, KH
Eng, CM
Desnick, RJ
Citation: P. Ashton-prolla et al., Fabry disease: Twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes, J INVES MED, 48(4), 2000, pp. 227-235
Authors:
Schuler, L
Pastuszak, A
Sanseverino, MTV
Orioli, IM
Brunoni, D
Ashton-Prolla, P
da Costa, FS
Giugliani, R
Couto, AM
Brandao, SB
Koren, G
Citation: L. Schuler et al., Pregnancy outcome after exposure to misoprostol in Brazil: A prospective, controlled study, REPROD TOX, 13(2), 1999, pp. 147-151
Authors:
Ashton-Prolla, P
Ashley, GA
Giugliani, R
Pires, RF
Desnick, RJ
Eng, CM
Citation: P. Ashton-prolla et al., Fabry disease: Comparison of enzymatic, linkage, and mutation analysis forcarrier detection in a family with a novel mutation (30delG), AM J MED G, 84(5), 1999, pp. 420-424
Authors:
Grace, ME
Ashton-Prolla, P
Pastores, GM
Soni, A
Desnick, RJ
Citation: Me. Grace et al., Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 Gaucher disease, J CLIN INV, 103(6), 1999, pp. 817-823